Abstract:
OBJECTIVES:Long-term clinical follow-up and mutation analysis were performed in 27 Chinese congenital hyperinsulinism patients. METHOD:27 hypoglycemia patients were diagnosed with CHI within 2 years of age. The long-term clinical outcome was analyzed and mutation analysis of 5 hyperinsulinism candidate genes was performed. RESULTS:The median onset age of hypoglycemia in the patients was 60 days; 11 patients showed hypoglycemic symptoms in the neonatal stage, and hypoglycemia in most of the patients was first expressed as a seizure. Blood was collected during the hypoglycemic episode and insulin levels were significantly elevated. ABCC8, KCNJ11, GCK, HNF4a and GLUD1 genes were screened for mutation analysis. 14 mutations in ABCC8 or KCNJ11 genes in 12 cases were identified (44%). 57% (8/14) of the mutations have not been reported before. 83% (10/12) of the patients have a monoallelic mutation. 58% of these 12 patients were predicted to be focal. 73% of the patients without KATP channel mutations were sensitive to diazoxide. 26 patients were followed over a period of 1-13 years. 50% of all 27 patients showed brain impairment. CONCLUSIONS:Chinese CHI patients are similar to other ethnic groups in terms of prevalence of KATP-HI, onset age, severity of hypoglycemia and treatment. Mutations in ABCC8 and KCNJ11 are common causes of CHI in Chinese patients. Mutation analysis showed more novel and monoallele mutations in KATP genes.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Su C,Gong C,Sanger P,Li W,Wu D,Gu Y,Cao Bdoi
10.1159/000356911subject
Has Abstractpub_date
2014-01-01 00:00:00pages
169-76issue
3eissn
1663-2818issn
1663-2826pii
000356911journal_volume
81pub_type
临床试验,杂志文章abstract:AIMS:To evaluate auxological parameters in children and adults with a 22q11.2 microdeletion syndrome (22q11.2 DS) and to compare prevalence of obesity to that in the French general population. METHODS:102 patients with 22q11.2 DS (49 males, 53 females) were recruited from birth to adulthood through a reference center ...
journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
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doi:10.1159/000465520
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000315656
更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究
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更新日期:2014-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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更新日期:2015-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
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更新日期:2017-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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更新日期:2013-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
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更新日期:2019-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
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更新日期:2011-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
doi:10.1159/000336004
更新日期:2012-01-01 00:00:00
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章
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更新日期:2017-01-01 00:00:00